title: Epileptic spasms in tuberous sclerosis complex.
abstract: OBJECTIVE
  To characterize epileptic spasms (ES) occurring after the age of two years in patients with tuberous sclerosis complex (TSC), particularly treatment response to vigabatrin (VGB), which is extremely effective for infantile spasms (IS) in TSC.
  
  
  METHODS
  The authors retrospectively reviewed 19 patients with TSC and ES. Medical records were assessed for clinical and treatment data, neurocognitive, EEG, MRI data, and genetic analyses.
  
  
  RESULTS
  Of 391 patients with TSC, 19 (4.8%) had ES. Of those with detailed clinical data, six had infantile spasms that persisted after 2 years old, six recurred after an initial remission of infantile spasms (range 2-24 years old), and four occurred de novo over the age of two (range 2-20 years old). All concurrently had other seizure types. One had hypsarrhythmia on EEG. All had brain MRI stigmata typical of TSC. Thirteen had a mutation in TSC2, and one in TSC1. Six patients became spasm-free with medication treatment, including four with VGB, one with VGB in combination with the low glycemic index dietary treatment, and one with felbamate. Five became spasm-free after epilepsy surgery. VGB was not effective for seven patients. The majority continued to have refractory epilepsy.
  
  
  CONCLUSIONS
  ES are not uncommon in patients with TSC, especially those with TSC2 mutations. ES in TSC occur in the setting of other seizure types and refractory epilepsy. Hypsarrhythmia is rare. VGB can be effective, but the success of VGB for ES in TSC is not equivalent to that of IS in TSC.
authors.affiliation: Pediatric Epilepsy Program, Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA 02114-2796, USA. david.t.hsieh.mil@mail.mil
authors.forename: David T
authors.initials: DT
authors.lastname: Hsieh
authors.forename: Melanie M
authors.initials: MM
authors.lastname: Jennesson
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Thiele
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D001321:Autistic Disorder / Q000150:complications; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D003625:Data Collection; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D011379:Prognosis; D012189:Retrospective Studies; D013035:Spasm / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D013036:Spasms, Infantile / Q000209:etiology; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: D000927:Anticonvulsants
keywords: AED; EEG; ES; Epileptic spasms; ILAE; IQ; IS; Infantile spasms; International League Against Epilepsy; LGIT; MRI; TSC; Tuberous sclerosis complex; VGB; Vigabatrin; anti-epileptic drug; electroencephalogram; epileptic spasms; infantile spasms; intelligence quotient; low glycemic index treatment; magnetic resonance imaging; tuberous sclerosis complex; vigabatrin